This includes a complex rearrangement of OCA2 (MIM# 611409) with deep intronic breakpoints [6] and deletion of the second exon of CREBBP (MIM# 600140) in a child with features of Rubinstein-Taybi syndrome 1 (MIM#180849) and previous negative ES. This evidence concerns the gene CREBBP and Rubinstein-Taybi syndrome due to CREBBP mutations.